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Description for Protein ANK2

ankyrin 2, neuronal
7 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 8)
Summary:
This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ANK: ankyrin repeats
  • CC: Coiled Coil
  • DEATH: DEATH domain, found in proteins involved in cell death (apoptosis).
  • ZU5: Domain present in ZO-1 and Unc5-like netrin receptors
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10380
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Ankyrin, nonerythroid; Ankyrin, brain; Ankyrin, neuronal; Ankyrin B; Ankyrin 2 isoform 2; Ankyrin 2 isoform 1
    Approved Symbol:
    ANK2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 56
    Human (de-) phosphorylation sites: 56; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Long GT syndrome 4(Pd);
  • Sick sinus syndrome with bradycardia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00110 Entrez Gene ID: 287 OMIM ID: 106410 Swissprot Accession: Q01484;